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rs281865485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865485(C;G)
Make rs281865485(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41342218
GeneTGFB1
is asnp
is mentioned by
dbSNPrs281865485
ebirs281865485
HLIrs281865485
Exacrs281865485
Varsomers281865485
Maprs281865485
PheGenIrs281865485
hapmaprs281865485
1000 genomesrs281865485
hgdprs281865485
ensemblrs281865485
gopubmedrs281865485
geneviewrs281865485
scholarrs281865485
googlers281865485
pharmgkbrs281865485
gwascentralrs281865485
openSNPrs281865485
23andMers281865485
23andMe allrs281865485
SNP Nexus

SNPshotrs281865485
SNPdbers281865485
MSV3drs281865485
GWAS Ctlgrs281865485
Max Magnitude0
ClinVar
Risk rs281865485(G;G)
Alt rs281865485(G;G)
Reference rs281865485(C;C)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.10:g.41342218G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032150.1,